Mutagenetix > Incidental Mutation

Incidental Mutation 'T0970:Pcdhac2'

67273

Institutional Source

Beutler Lab

Gene Symbol

Pcdhac2

Ensembl Gene

ENSMUSG00000102697

Gene Name

protocadherin alpha subfamily C, 2

Synonyms

CNRc2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

T0970 (G3) of strain 713

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37276731-37320716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37278388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 456 (V456A)

Ref Sequence

ENSEMBL: ENSMUSP00000039888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007584] [ENSMUST00000047479] [ENSMUST00000047614] [ENSMUST00000070797] [ENSMUST00000115657] [ENSMUST00000115658] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000192447] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000193389] [ENSMUST00000192631] [ENSMUST00000194038] [ENSMUST00000192503] [ENSMUST00000193839] [ENSMUST00000192512] [ENSMUST00000193777] [ENSMUST00000192295] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000195590]

AlphaFold

Q91Y09

Predicted Effect

probably benign
Transcript: ENSMUST00000007584

SMART Domains

Protein: ENSMUSP00000007584
Gene: ENSMUSG00000103255

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CA	45	122	3.59e-1	SMART
CA	146	231	6.32e-22	SMART
CA	255	338	5.18e-18	SMART
CA	362	443	9.73e-23	SMART
CA	467	554	4.24e-23	SMART
CA	584	662	1.11e-8	SMART
Pfam:Cadherin_C_2	682	773	1.1e-12	PFAM
Pfam:Cadherin_tail	813	947	5.4e-58	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047479
AA Change: V456A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039888
Gene: ENSMUSG00000102697
AA Change: V456A

Domain	Start	End	E-Value	Type
CA	30	145	9.8e-3	SMART
CA	169	254	2.07e-17	SMART
CA	278	362	2.86e-29	SMART
CA	386	466	4.79e-22	SMART
CA	490	576	1.44e-25	SMART
CA	606	687	3.45e-14	SMART
Pfam:Cadherin_C_2	702	809	1.2e-26	PFAM
low complexity region	810	823	N/A	INTRINSIC
Pfam:Cadherin_tail	855	989	5.8e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047614

SMART Domains

Protein: ENSMUSP00000047609
Gene: ENSMUSG00000103310

Domain	Start	End	E-Value	Type
CA	19	131	3.78e-2	SMART
CA	155	240	3.26e-24	SMART
CA	264	348	6.37e-27	SMART
CA	372	453	3.31e-25	SMART
CA	477	563	6.18e-25	SMART
CA	594	676	5.6e-14	SMART
low complexity region	679	696	N/A	INTRINSIC
transmembrane domain	699	721	N/A	INTRINSIC
Pfam:Cadherin_tail	799	933	5.3e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070797

SMART Domains

Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442

Domain	Start	End	E-Value	Type
CA	22	132	3.09e-2	SMART
CA	156	241	6.14e-20	SMART
CA	265	349	3.92e-27	SMART
CA	373	454	4.94e-24	SMART
CA	478	564	1e-24	SMART
CA	592	672	4.55e-14	SMART
transmembrane domain	694	716	N/A	INTRINSIC
Pfam:Cadherin_tail	797	931	5.3e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115657

SMART Domains

Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206

Domain	Start	End	E-Value	Type
CA	21	131	2.95e-2	SMART
CA	155	240	7.44e-19	SMART
CA	264	347	5.63e-28	SMART
CA	371	452	3.14e-26	SMART
CA	476	562	1.42e-24	SMART
CA	593	675	1.03e-12	SMART
transmembrane domain	697	719	N/A	INTRINSIC
low complexity region	783	794	N/A	INTRINSIC
low complexity region	918	942	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115658

SMART Domains

Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440

Domain	Start	End	E-Value	Type
low complexity region	15	21	N/A	INTRINSIC
CA	46	132	6.34e-2	SMART
CA	156	241	4.65e-20	SMART
CA	265	349	1.25e-25	SMART
CA	373	454	9.22e-24	SMART
CA	478	564	4.3e-24	SMART
CA	595	678	5.07e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	795	929	5.3e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115659

SMART Domains

Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770

Domain	Start	End	E-Value	Type
low complexity region	44	51	N/A	INTRINSIC
CA	75	161	2.46e-2	SMART
CA	185	270	8.1e-20	SMART
CA	294	378	1.69e-22	SMART
CA	402	483	1.52e-24	SMART
CA	507	593	5.68e-24	SMART
CA	624	705	6.69e-12	SMART
transmembrane domain	727	749	N/A	INTRINSIC
Pfam:Cadherin_tail	828	962	5.6e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192447

SMART Domains

Protein: ENSMUSP00000142270
Gene: ENSMUSG00000102206

Domain	Start	End	E-Value	Type
CA	21	131	1.5e-4	SMART
CA	155	240	3.6e-21	SMART
CA	264	347	2.8e-30	SMART
CA	371	452	1.5e-28	SMART
CA	476	562	6.8e-27	SMART
CA	593	675	4.9e-15	SMART
transmembrane domain	697	719	N/A	INTRINSIC
low complexity region	783	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000115662

SMART Domains

Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148

Domain	Start	End	E-Value	Type
CA	45	131	6.34e-2	SMART
CA	155	240	2.98e-18	SMART
CA	264	348	2.17e-29	SMART
CA	372	453	2.84e-24	SMART
CA	477	563	5.02e-25	SMART
CA	594	675	8.16e-16	SMART
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	916	940	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192168

SMART Domains

Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092

Domain	Start	End	E-Value	Type
CA	21	131	2.2e-2	SMART
CA	155	240	2.05e-21	SMART
CA	264	348	8.81e-21	SMART
CA	372	453	2.01e-24	SMART
CA	477	563	1.42e-24	SMART
CA	591	673	1.63e-15	SMART
transmembrane domain	693	715	N/A	INTRINSIC
low complexity region	902	926	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193389

SMART Domains

Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707

Domain	Start	End	E-Value	Type
CA	21	131	5.67e-2	SMART
CA	155	240	4.72e-21	SMART
CA	264	348	1.9e-25	SMART
CA	372	453	3.31e-25	SMART
CA	477	563	1.42e-24	SMART
CA	594	676	5.91e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192631

SMART Domains

Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318

Domain	Start	End	E-Value	Type
CA	21	131	2.58e-2	SMART
CA	155	240	4.27e-19	SMART
CA	264	348	1.42e-24	SMART
CA	372	453	9.36e-25	SMART
CA	477	563	1.42e-24	SMART
CA	594	671	4.03e-6	SMART
transmembrane domain	696	718	N/A	INTRINSIC
low complexity region	905	929	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194038

SMART Domains

Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800

Domain	Start	End	E-Value	Type
CA	20	131	6.34e-2	SMART
CA	155	240	4.27e-19	SMART
CA	264	348	2.04e-25	SMART
CA	372	453	2.84e-24	SMART
CA	477	563	9.88e-24	SMART
CA	594	676	8.62e-15	SMART
transmembrane domain	699	721	N/A	INTRINSIC
low complexity region	914	938	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193856

Predicted Effect

probably benign
Transcript: ENSMUST00000192503

SMART Domains

Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312

Domain	Start	End	E-Value	Type
low complexity region	11	17	N/A	INTRINSIC
CA	42	128	3.78e-2	SMART
CA	152	237	8.94e-22	SMART
CA	261	345	3.74e-24	SMART
CA	369	450	1.09e-25	SMART
CA	474	560	1.42e-24	SMART
CA	588	670	2.96e-13	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	910	934	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193839

SMART Domains

Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442

Domain	Start	End	E-Value	Type
CA	22	132	3.09e-2	SMART
CA	156	241	6.14e-20	SMART
CA	265	349	3.92e-27	SMART
CA	373	454	4.94e-24	SMART
CA	478	564	1e-24	SMART
CA	592	672	4.55e-14	SMART
transmembrane domain	694	716	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192512

SMART Domains

Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
low complexity region	915	939	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193777

SMART Domains

Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707

Domain	Start	End	E-Value	Type
CA	21	131	5.67e-2	SMART
CA	155	240	4.72e-21	SMART
CA	264	348	1.9e-25	SMART
CA	372	453	3.31e-25	SMART
CA	477	563	1.42e-24	SMART
CA	594	676	5.91e-13	SMART
low complexity region	914	938	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192295

SMART Domains

Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	568	5.38e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194691

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000194751

SMART Domains

Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707

Domain	Start	End	E-Value	Type
low complexity region	15	21	N/A	INTRINSIC
Pfam:Cadherin_2	29	112	4.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195590

SMART Domains

Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148

Domain	Start	End	E-Value	Type
CA	45	131	6.34e-2	SMART
CA	155	240	2.98e-18	SMART
CA	264	348	2.17e-29	SMART
CA	372	453	2.84e-24	SMART
CA	477	563	5.02e-25	SMART
CA	594	675	8.16e-16	SMART
transmembrane domain	695	717	N/A	INTRINSIC

Meta Mutation Damage Score

0.5018

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (25/25)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele are viable and fertile with no apparent gross phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	A	T	10: 88,817,052 (GRCm39)	L591*	probably null	Het
Aqp4	A	G	18: 15,532,940 (GRCm39)	L51P	probably damaging	Het
Cemip	A	T	7: 83,632,354 (GRCm39)	C403S	probably damaging	Het
Cfap74	G	T	4: 155,547,574 (GRCm39)		probably null	Het
Glis3	G	A	19: 28,508,332 (GRCm39)	R551W	probably damaging	Het
Gm11232	T	A	4: 71,674,740 (GRCm39)	Y254F	possibly damaging	Het
Map3k14	G	T	11: 103,115,124 (GRCm39)	C837*	probably null	Het
Mrc2	A	C	11: 105,238,453 (GRCm39)	E1200A	probably benign	Het
Nfix	T	C	8: 85,453,112 (GRCm39)	N314S	possibly damaging	Het
Nphp4	T	C	4: 152,640,836 (GRCm39)	S1068P	probably damaging	Het
Nup98	A	C	7: 101,835,959 (GRCm39)		probably benign	Het
Or13p8	A	G	4: 118,583,464 (GRCm39)	R7G	probably benign	Het
Pcdhb1	G	T	18: 37,399,026 (GRCm39)	G326C	probably damaging	Het
Prss38	A	G	11: 59,263,974 (GRCm39)	V246A	possibly damaging	Het
Rnf26	C	G	9: 44,023,369 (GRCm39)	R172P	probably damaging	Het
Septin4	A	T	11: 87,458,558 (GRCm39)	T311S	probably damaging	Het
Serinc3	TATCATC	TATC	2: 163,469,835 (GRCm39)		probably benign	Het
Spire1	C	A	18: 67,634,133 (GRCm39)		probably null	Het
Tex2	T	A	11: 106,437,772 (GRCm39)	I633F	unknown	Het
Tle2	A	G	10: 81,416,119 (GRCm39)	D108G	possibly damaging	Het
Txnrd2	T	C	16: 18,260,523 (GRCm39)	V185A	probably damaging	Het
Unc45b	C	A	11: 82,813,714 (GRCm39)	H374N	probably benign	Het
Wtap	T	C	17: 13,188,277 (GRCm39)		probably benign	Het

Other mutations in Pcdhac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Pcdhac2	APN	18	37,278,128 (GRCm39)	missense	probably damaging	1.00
IGL01400:Pcdhac2	APN	18	37,279,339 (GRCm39)	missense	possibly damaging	0.79
IGL02302:Pcdhac2	APN	18	37,279,006 (GRCm39)	missense	probably damaging	0.99
IGL02381:Pcdhac2	APN	18	37,277,320 (GRCm39)	missense	possibly damaging	0.94
IGL02644:Pcdhac2	APN	18	37,278,232 (GRCm39)	missense	probably benign
IGL02645:Pcdhac2	APN	18	37,278,292 (GRCm39)	missense	probably damaging	0.97
IGL03087:Pcdhac2	APN	18	37,278,735 (GRCm39)	missense	probably damaging	1.00
R0004:Pcdhac2	UTSW	18	37,278,290 (GRCm39)	missense	probably benign	0.21
R0374:Pcdhac2	UTSW	18	37,278,720 (GRCm39)	missense	probably damaging	1.00
R0540:Pcdhac2	UTSW	18	37,278,942 (GRCm39)	missense	probably benign	0.02
R0589:Pcdhac2	UTSW	18	37,279,527 (GRCm39)	missense	probably benign
R0607:Pcdhac2	UTSW	18	37,278,942 (GRCm39)	missense	probably benign	0.02
R1537:Pcdhac2	UTSW	18	37,279,539 (GRCm39)	missense	possibly damaging	0.51
R1545:Pcdhac2	UTSW	18	37,279,186 (GRCm39)	missense	possibly damaging	0.93
R1878:Pcdhac2	UTSW	18	37,278,215 (GRCm39)	missense	possibly damaging	0.71
R2139:Pcdhac2	UTSW	18	37,279,139 (GRCm39)	nonsense	probably null
R2197:Pcdhac2	UTSW	18	37,279,185 (GRCm39)	missense	probably damaging	0.99
R2680:Pcdhac2	UTSW	18	37,278,639 (GRCm39)	missense	possibly damaging	0.82
R2882:Pcdhac2	UTSW	18	37,278,865 (GRCm39)	missense	probably damaging	1.00
R3719:Pcdhac2	UTSW	18	37,279,288 (GRCm39)	missense	possibly damaging	0.59
R4256:Pcdhac2	UTSW	18	37,277,764 (GRCm39)	missense	probably damaging	1.00
R4407:Pcdhac2	UTSW	18	37,277,499 (GRCm39)	missense	probably benign	0.00
R4426:Pcdhac2	UTSW	18	37,277,796 (GRCm39)	missense	probably benign	0.00
R4698:Pcdhac2	UTSW	18	37,278,822 (GRCm39)	missense	probably damaging	1.00
R4737:Pcdhac2	UTSW	18	37,278,952 (GRCm39)	missense	possibly damaging	0.95
R4950:Pcdhac2	UTSW	18	37,278,283 (GRCm39)	missense	probably benign	0.06
R4993:Pcdhac2	UTSW	18	37,279,304 (GRCm39)	missense	probably damaging	0.96
R5127:Pcdhac2	UTSW	18	37,277,352 (GRCm39)	nonsense	probably null
R5446:Pcdhac2	UTSW	18	37,278,253 (GRCm39)	missense	probably damaging	1.00
R5598:Pcdhac2	UTSW	18	37,277,476 (GRCm39)	missense	probably damaging	1.00
R5615:Pcdhac2	UTSW	18	37,279,477 (GRCm39)	missense	probably benign
R5615:Pcdhac2	UTSW	18	37,279,476 (GRCm39)	missense	probably benign	0.22
R5620:Pcdhac2	UTSW	18	37,277,257 (GRCm39)	missense	probably benign
R5661:Pcdhac2	UTSW	18	37,278,499 (GRCm39)	missense	probably damaging	0.97
R5760:Pcdhac2	UTSW	18	37,279,453 (GRCm39)	missense	probably damaging	1.00
R6102:Pcdhac2	UTSW	18	37,279,335 (GRCm39)	nonsense	probably null
R6310:Pcdhac2	UTSW	18	37,278,824 (GRCm39)	nonsense	probably null
R6493:Pcdhac2	UTSW	18	37,277,758 (GRCm39)	missense	probably damaging	1.00
R6695:Pcdhac2	UTSW	18	37,278,256 (GRCm39)	missense	probably benign	0.00
R6827:Pcdhac2	UTSW	18	37,277,706 (GRCm39)	missense	probably benign	0.03
R6953:Pcdhac2	UTSW	18	37,277,479 (GRCm39)	missense	probably benign
R7140:Pcdhac2	UTSW	18	37,277,239 (GRCm39)	missense	possibly damaging	0.89
R7162:Pcdhac2	UTSW	18	37,278,840 (GRCm39)	missense	probably benign	0.13
R7242:Pcdhac2	UTSW	18	37,277,946 (GRCm39)	missense	possibly damaging	0.82
R7325:Pcdhac2	UTSW	18	37,278,413 (GRCm39)	missense	probably damaging	1.00
R7640:Pcdhac2	UTSW	18	37,277,578 (GRCm39)	missense	probably damaging	1.00
R7654:Pcdhac2	UTSW	18	37,278,076 (GRCm39)	missense	probably damaging	1.00
R7810:Pcdhac2	UTSW	18	37,278,717 (GRCm39)	missense	probably benign	0.18
R8072:Pcdhac2	UTSW	18	37,278,717 (GRCm39)	missense	probably benign	0.18
R8079:Pcdhac2	UTSW	18	37,279,197 (GRCm39)	missense	probably damaging	0.96
R8272:Pcdhac2	UTSW	18	37,279,242 (GRCm39)	missense	probably benign	0.30
R8489:Pcdhac2	UTSW	18	37,278,207 (GRCm39)	missense	probably damaging	1.00
R8893:Pcdhac2	UTSW	18	37,277,071 (GRCm39)	missense	probably benign
R9035:Pcdhac2	UTSW	18	37,277,758 (GRCm39)	missense	probably damaging	1.00
R9189:Pcdhac2	UTSW	18	37,277,316 (GRCm39)	missense	probably benign	0.00
R9262:Pcdhac2	UTSW	18	37,279,095 (GRCm39)	missense	possibly damaging	0.71
R9626:Pcdhac2	UTSW	18	37,279,555 (GRCm39)	missense	probably damaging	0.99
R9688:Pcdhac2	UTSW	18	37,277,628 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GACCAAGATTCAGGCTCCAACAGG -3'
(R):5'- TTGACAGCATAAAGGCTGCCGC -3'

Sequencing Primer
(F):5'- TTCAGGCTCCAACAGGAAAGTAAG -3'
(R):5'- TGACTGGCAGCCCTTGAATC -3'

Posted On

2013-09-03